A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397129



Internal ID14897406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79684836..79684892hg38UCSC Ensembl
Innerchr18:79684836..79684892hg38UCSC Ensembl
Outerchr18:79683392..79686555hg38UCSC Ensembl
chr18:77444836..77444892hg19UCSC Ensembl
Innerchr18:77444836..77444892hg19UCSC Ensembl
Outerchr18:77443392..77446555hg19UCSC Ensembl
chr18:75545824..75545880hg18UCSC Ensembl
Innerchr18:75545824..75545880hg18UCSC Ensembl
Outerchr18:75544380..75547543hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652009
SamplesNA19240
Known GenesCTDP1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397129
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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